CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Myelination of axons in the nervous system of vertebrates enables fast, saltatory impulse
propagation, one of the best-understood concepts in neurophysiology. However, it took a …

Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

Understanding spinal cord assembly is essential to elucidate how motor behavior is
controlled and how disorders arise. The human spinal cord is exquisitely organized, and this …

Primary aldosteronism, a common cause of severe hypertension, features constitutive
production of the adrenal steroid aldosterone. We analyzed a multiplex family with familial …

Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders
characterized by a primary lack of myelin deposition. Most patients with severe …

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

The nematode Caenorhabditis elegans is a powerful experimental setting for uncovering
fundamental tenets of nervous system organization and function. Its nearly invariant and …

Advances in neuroimaging have enabled greater understanding of the progression of
cerebral degenerative processes associated with ageing‐related dementias. Leukoaraiosis …

Primary aldosteronism is the most common and curable form of secondary arterial
hypertension. We performed whole-exome sequencing in patients with early-onset primary …